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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Allen, Sophie; Garrett, Alice; Muffley, Lara; Fayer, Shawn; Foreman, Julia; Adams, David J; Hurles, Matthew; Rubin, Alan F; Roth, Frederick P; Starita, Lea M; Biesecker, Leslie G; Turnbull, Clare.
Afiliação
  • Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. sophie.allen@icr.ac.uk.
  • Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
  • Muffley L; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK.
  • Fayer S; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Foreman J; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Adams DJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Hurles M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Rubin AF; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Roth FP; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Starita LM; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
  • Biesecker LG; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
  • Turnbull C; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Eur J Hum Genet ; 32(5): 593-600, 2024 May.
Article em En | MEDLINE | ID: mdl-38433264

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos Idioma: En Ano de publicação: 2024 Tipo de documento: Article